TY  - JOUR
A1  - Hedrich, Christian M.
A1  - Hofmann, Sigrun R.
A1  - Pablik, Jessica
A1  - Morbach, Henner
A1  - Girschick, Hermann J.
T1  - Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO)
JF  - Pediatric Rheumatology
N2  - Sterile bone inflammation is the hallmark of autoinflammatory bone disorders, including chronic nonbacterial osteomyelitis (CNO) with its most severe form chronic recurrent multifocal osteomyelitis (CRMO). Autoinflammatory osteopathies are the result of a dysregulated innate immune system, resulting in immune cell infiltration of the bone and subsequent osteoclast differentiation and activation. Interestingly, autoinflammatory bone disorders are associated with inflammation of the skin and/or the intestine. In several monogenic autoinflammatory bone disorders mutations in disease-causing genes have been reported. However, regardless of recent developments, the molecular pathogenesis of CNO/CRMO remains unclear. Here, we discuss the clinical presentation and molecular pathophysiology of human autoinflammatory osteopathies and animal models with special focus on CNO/CRMO. Treatment options in monogenic autoinflammatory bone disorders and CRMO will be illustrated.
KW  - bisphosphonate treatment
KW  - IL-10 expression
KW  - TNF-α
KW  - IL-10
KW  - inflammation
KW  - bone
KW  - CRMO
KW  - CNO
KW  - DIRA
KW  - PAPA
KW  - Majeed-Syndrome
KW  - disease
KW  - deficiency
KW  - pediatric patients
KW  - treatment
KW  - TLR4
KW  - PAPA syndrome
KW  - hypertrophic osteodystrophy
KW  - chronic nonbacterial osteomyelitis
KW  - congenital dyserythropoietic anemia
Y1  - 2013
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-125694
SN  - 1546-0096
VL  - 11
IS  - 47
ER  - 
TY  - JOUR
A1  - Girschick, Hermann
A1  - Wolf, Christine
A1  - Morbach, Henner
A1  - Hertzberg, Christoph
A1  - Lee-Kirsch, Min Ae
T1  - Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene
JF  - Pediatric Rheumatology
N2  - Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia, characterized by metaphyseal lesions, neurological impairment and immune dysregulation associated with lupus-like features. SPENCD is caused by biallelic mutations in the ACP5 gene encoding tartrate-resistant phosphatase. We report on a child, who presented with spasticity, multisystem inflammation, autoimmunity and immunodeficiency with minimal metaphyseal changes due to compound heterozygosity for two novel ACP5 mutations. These findings extend the phenotypic spectrum of SPENCD and indicate that ACP5 mutations can cause severe immune dysregulation and neurological impairment even in the absence of metaphyseal dysplasia.
KW  - resistant acid phosphatase
KW  - expression
KW  - systemic lupus erythematosus
KW  - cerebral calcification
KW  - deficiency
KW  - autoimmunity
KW  - dysplasia
KW  - trap
KW  - spondyloenchondrodysplasia
KW  - ACP5
KW  - immunodeficiency
KW  - type I interferonopathy
Y1  - 2015
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-149990
VL  - 13
IS  - 37
ER  -